Pharmacy

1Molecular Biology

Biologia Molecular

Course code:9494307

Nuno Eduardo Moura dos Santos da Costa Taveira

Learning outcomes of the curricular unit:
  • To get knowledge on contemporary methods of characterization of the human nuclear and mitochondrial genome.
  • To know mechanisms of regulation of genetic expression and to understand how its deregulation causes diseases.
  • To characterize the genetic susceptibility to diseases and molecular biology of some human diseases including cancer, thalassemia, metabolic diseases and neurodegenerative diseases (Huntington and Alzheimer).
  • Describe the methods used in the execution and interpretation of DNA profiles for individual identification.
  • At a practical level the objectives are to learn how to plan, perform and interpret experiments for identification and analysis of human genes and factors regulating their expression (microRNAs).
  • In the end the student will have acquired the necessary skills to characterize the genetic determinants of susceptibility and the molecular mechanisms of some human diseases. The student will also be able to identify individuals based on their DNA profile.
Syllabus:
  1. Molecular biology methods applied to the characterization and analysis of human nuclear and mitochondrial genomes.
  2. Regulation of human gene expression and diseases associated with gene expression dysregulation.
  3. Principles of medical and population genetics.
  4. Molecular mechanisms of some monogenic and polygenic diseases.
  5. Genetic susceptibility to diseases.
  6. Methods used in the execution of DNA profiles for human identification.
Suggested Bibliography:
  • Cox TM & J Sinclair (eds) (1997). Molecular biology in medicine. Blackwell Science. ISBN 0-632-02785-1
  • Lodish H, Beck A, Kaiser C, Krieger M, Bretscher A, Ploegh H, Amon A, Scott MP (2016) Molecular cell biology. 8th Edition. W.H. Freeman and Company. ISBN-13: 978-1464183393
  • Pinheiro MF (2010) Genética Forense. Perspectivas da Identificação Genética. Edições Universidade Fernando Pessoa. Porto
  • Lewis R (2017) Human Genetics. Concepts and applications. 12th ed. McGraw-Hill Publishing Company. ISBN: 978-1-259-70093-4